Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1060501536
rs1060501536
ATM ; C11orf65
1.000 0.200 11 108325395 stop gained C/T snv 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1060501548
rs1060501548
ATM ; C11orf65
1.000 0.200 11 108315895 frameshift variant T/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1060501657
rs1060501657
ATM ; C11orf65
1.000 0.200 11 108310266 frameshift variant AT/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1060501713
rs1060501713
ATM ; C11orf65
1.000 0.200 11 108343373 splice donor variant T/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1064793046
rs1064793046
ATM ; C11orf65
1.000 0.200 11 108343323 frameshift variant TACA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1131691156
rs1131691156
ATM ; C11orf65
11 108325509 frameshift variant CT/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1131691157
rs1131691157
ATM ; C11orf65
11 108329192 frameshift variant AA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1131691158
rs1131691158
ATM ; C11orf65
11 108345755 stop gained A/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1131691162
rs1131691162
ATM ; C11orf65
1.000 0.200 11 108327701 stop gained G/A snv 1.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1232259438
rs1232259438
ATM ; C11orf65
11 108347309 frameshift variant AT/- del 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1398616877
rs1398616877
ATM ; C11orf65
11 108335844 splice acceptor variant G/A snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1438576066
rs1438576066
ATM ; C11orf65
11 108315830 frameshift variant -/C delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs147187700
rs147187700
ATM ; C11orf65
0.925 0.120 11 108310218 missense variant G/C snv 1.3E-04 1.8E-04
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1555110295
rs1555110295
ATM ; C11orf65
11 108310188 frameshift variant GCT/CCTC delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1555110418
rs1555110418
ATM ; C11orf65
11 108310250 frameshift variant C/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1555110517
rs1555110517
ATM ; C11orf65
11 108310290 frameshift variant -/AAAGTAT delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1555111763
rs1555111763
ATM ; C11orf65
11 108312427 stop gained G/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1555111808
rs1555111808
ATM ; C11orf65
11 108312448 frameshift variant -/T delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1555111855
rs1555111855
ATM ; C11orf65
1.000 0.200 11 108312472 frameshift variant A/-;AA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1555111910
rs1555111910
ATM ; C11orf65
11 108312494 stop gained T/C;G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1555113567
rs1555113567
ATM ; C11orf65
11 108315843 stop gained C/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1555113762
rs1555113762
ATM ; C11orf65
1.000 0.200 11 108316048 frameshift variant G/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1555113845
rs1555113845
ATM ; C11orf65
11 108316096 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1555114623
rs1555114623
ATM ; C11orf65
11 108317410 frameshift variant CT/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1555114702
rs1555114702
ATM ; C11orf65
11 108317444 frameshift variant C/TT delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0